Incidental Mutation 'IGL01503:Sfmbt2'
| ID |
88956 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sfmbt2
|
| Ensembl Gene |
ENSMUSG00000061186 |
| Gene Name |
Scm-like with four mbt domains 2 |
| Synonyms |
D330030P06Rik, D2Wsu23e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01503
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
10375321-10600064 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 10584165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 841
(R841*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041105]
[ENSMUST00000116594]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041105
AA Change: R874*
|
| SMART Domains |
Protein: ENSMUSP00000040575
Gene: ENSMUSG00000061186
AA Change: R874*
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
MBT
|
151 |
255 |
2.03e-35 |
SMART |
|
MBT
|
265 |
371 |
3.6e-27 |
SMART |
|
MBT
|
379 |
475 |
4.15e-41 |
SMART |
|
Pfam:DUF3588
|
528 |
643 |
1.4e-37 |
PFAM |
|
low complexity region
|
719 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
741 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
853 |
869 |
N/A |
INTRINSIC |
|
SAM
|
902 |
968 |
1.12e-6 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000116594
AA Change: R841*
|
| SMART Domains |
Protein: ENSMUSP00000112293
Gene: ENSMUSG00000061186
AA Change: R841*
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
43 |
143 |
2.49e-44 |
SMART |
|
MBT
|
151 |
255 |
2.03e-35 |
SMART |
|
MBT
|
265 |
371 |
3.6e-27 |
SMART |
|
MBT
|
379 |
475 |
4.15e-41 |
SMART |
|
Pfam:DUF3588
|
527 |
646 |
2.9e-40 |
PFAM |
|
low complexity region
|
657 |
670 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
705 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
722 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
725 |
744 |
1.3e-5 |
PROSPERO |
|
internal_repeat_2
|
745 |
764 |
1.3e-5 |
PROSPERO |
|
low complexity region
|
820 |
836 |
N/A |
INTRINSIC |
|
SAM
|
869 |
935 |
1.12e-6 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(29) : Targeted, other(2) Gene trapped(27) |
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
T |
A |
16: 88,971,757 (GRCm39) |
Y26* |
probably null |
Het |
| Aadacl4fm4 |
T |
A |
4: 144,401,137 (GRCm39) |
I116F |
probably damaging |
Het |
| Arpc1a |
T |
C |
5: 145,032,964 (GRCm39) |
V91A |
probably damaging |
Het |
| Atp2a1 |
T |
A |
7: 126,047,750 (GRCm39) |
I687F |
probably damaging |
Het |
| B3gnt5 |
A |
C |
16: 19,588,531 (GRCm39) |
Y250S |
probably damaging |
Het |
| Brip1 |
A |
G |
11: 85,952,703 (GRCm39) |
V1026A |
probably benign |
Het |
| C1s2 |
T |
C |
6: 124,602,612 (GRCm39) |
D527G |
probably damaging |
Het |
| Chrna5 |
T |
A |
9: 54,905,455 (GRCm39) |
|
probably benign |
Het |
| Cltc |
C |
A |
11: 86,586,526 (GRCm39) |
|
probably benign |
Het |
| Dgkh |
T |
G |
14: 78,853,710 (GRCm39) |
I439L |
possibly damaging |
Het |
| Dnajc16 |
G |
A |
4: 141,491,008 (GRCm39) |
T714I |
possibly damaging |
Het |
| Fam13a |
A |
T |
6: 58,933,065 (GRCm39) |
I349N |
probably damaging |
Het |
| Fig4 |
C |
T |
10: 41,132,514 (GRCm39) |
D431N |
probably benign |
Het |
| Gabra4 |
A |
T |
5: 71,798,429 (GRCm39) |
N183K |
possibly damaging |
Het |
| Ggt5 |
C |
T |
10: 75,445,944 (GRCm39) |
|
probably benign |
Het |
| Hdac6 |
A |
G |
X: 7,798,418 (GRCm39) |
L798P |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,456,714 (GRCm39) |
V2030A |
probably benign |
Het |
| Hecw2 |
A |
G |
1: 53,866,120 (GRCm39) |
Y1514H |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,480,823 (GRCm39) |
D4451G |
probably benign |
Het |
| Krtcap3 |
T |
C |
5: 31,409,167 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,217,695 (GRCm39) |
|
probably benign |
Het |
| Mapkapk2 |
T |
C |
1: 130,986,499 (GRCm39) |
M1V |
probably null |
Het |
| Mical3 |
A |
T |
6: 120,935,537 (GRCm39) |
I1663N |
probably benign |
Het |
| Mvp |
G |
T |
7: 126,601,133 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,170,324 (GRCm39) |
I485V |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,960,890 (GRCm39) |
C520* |
probably null |
Het |
| Nos2 |
A |
G |
11: 78,836,689 (GRCm39) |
|
probably benign |
Het |
| Ogdh |
G |
A |
11: 6,305,069 (GRCm39) |
V925M |
probably damaging |
Het |
| Pde2a |
T |
A |
7: 101,151,143 (GRCm39) |
|
probably benign |
Het |
| Plpp6 |
A |
G |
19: 28,942,279 (GRCm39) |
*293W |
probably null |
Het |
| Pole |
T |
A |
5: 110,451,750 (GRCm39) |
I864K |
probably damaging |
Het |
| Rexo4 |
A |
T |
2: 26,850,645 (GRCm39) |
I239N |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,152,687 (GRCm39) |
I748F |
probably damaging |
Het |
| Sh3bp5l |
A |
G |
11: 58,228,827 (GRCm39) |
N100S |
probably damaging |
Het |
| Spic |
T |
A |
10: 88,511,623 (GRCm39) |
D211V |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,776,477 (GRCm39) |
|
probably benign |
Het |
| Tshr |
A |
G |
12: 91,478,708 (GRCm39) |
Y83C |
probably damaging |
Het |
| Vsir |
A |
G |
10: 60,204,373 (GRCm39) |
E172G |
probably damaging |
Het |
| Wwp2 |
T |
C |
8: 108,276,413 (GRCm39) |
S508P |
probably damaging |
Het |
|
| Other mutations in Sfmbt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Sfmbt2
|
APN |
2 |
10,406,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01294:Sfmbt2
|
APN |
2 |
10,595,232 (GRCm39) |
splice site |
probably benign |
|
|
IGL01996:Sfmbt2
|
APN |
2 |
10,444,837 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02071:Sfmbt2
|
APN |
2 |
10,582,763 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02440:Sfmbt2
|
APN |
2 |
10,573,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02718:Sfmbt2
|
APN |
2 |
10,406,842 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03213:Sfmbt2
|
APN |
2 |
10,409,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03325:Sfmbt2
|
APN |
2 |
10,582,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Supermarket
|
UTSW |
2 |
10,584,192 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
3-1:Sfmbt2
|
UTSW |
2 |
10,409,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D605:Sfmbt2
|
UTSW |
2 |
10,584,136 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0919:Sfmbt2
|
UTSW |
2 |
10,582,382 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1180:Sfmbt2
|
UTSW |
2 |
10,406,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2391:Sfmbt2
|
UTSW |
2 |
10,450,504 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4208:Sfmbt2
|
UTSW |
2 |
10,547,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Sfmbt2
|
UTSW |
2 |
10,584,069 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4928:Sfmbt2
|
UTSW |
2 |
10,450,556 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5643:Sfmbt2
|
UTSW |
2 |
10,573,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5644:Sfmbt2
|
UTSW |
2 |
10,573,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5862:Sfmbt2
|
UTSW |
2 |
10,406,863 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5990:Sfmbt2
|
UTSW |
2 |
10,584,192 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6721:Sfmbt2
|
UTSW |
2 |
10,547,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7098:Sfmbt2
|
UTSW |
2 |
10,584,000 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7133:Sfmbt2
|
UTSW |
2 |
10,406,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7455:Sfmbt2
|
UTSW |
2 |
10,582,766 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7809:Sfmbt2
|
UTSW |
2 |
10,398,155 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8090:Sfmbt2
|
UTSW |
2 |
10,466,190 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8181:Sfmbt2
|
UTSW |
2 |
10,580,190 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8346:Sfmbt2
|
UTSW |
2 |
10,466,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8983:Sfmbt2
|
UTSW |
2 |
10,409,267 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9226:Sfmbt2
|
UTSW |
2 |
10,442,860 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9640:Sfmbt2
|
UTSW |
2 |
10,583,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Sfmbt2
|
UTSW |
2 |
10,583,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Sfmbt2
|
UTSW |
2 |
10,580,158 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2013-12-03 |
Incidental Mutation